Torthaí cuardaigh - Melis, Daniela

Liver involvement in congenital disorders of glycosylation. A systematic review de réir Colantuono, Rossella, D’Acunto, Elisa, Melis, Daniela, Vajro, Pietro, Freeze, Hudson H., Mandato, Claudia

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Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? de réir Melis, Daniela, Cappuccio, Gerarda, Ginocchio, Virginia Maria, Minopoli, Giorgia, Valli, Maurizia, Corradi, Massimiliano, Andria, Generoso

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Effect of long-term GH treatment in a patient with CHARGE association de réir Esposito, Andrea, Tufano, Maria, Di Donato, Iolanda, Rezzuto, Martina, Improda, Nicola, Melis, Daniela, Salerno, Mariacarolina

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Involvement of endocrine system in a patient affected by Glycogen storage disease 1b: speculation on the role of autoimmunity de réir Melis, Daniela, Casa, Roberto Della, Balivo, Francesca, Minopoli, Giorgia, Rossi, Alessandro, Salerno, Mariacarolina, Andria, Generoso, Parenti, Giancarlo

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Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation de réir Capalbo, Donatella, Scala, Maria Giuseppa, Melis, Daniela, Minopoli, Giorgia, Improda, Nicola, Palamaro, Loredana, Pignata, Claudio, Salerno, Mariacarolina

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Medullary unidentified bright objects in Neurofibromatosis type 1: a case series de réir D’Amico, Alessandra, Mazio, Federica, Ugga, Lorenzo, Cuocolo, Renato, Cirillo, Mario, Santoro, Claudia, Perrotta, Silverio, Melis, Daniela, Brunetti, Arturo

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A pilot clinical trial with losartan in Myhre syndrome de réir Cappuccio, Gerarda, Caiazza, Martina, Roca, Alessandro, Melis, Daniela, Iuliano, Antonella, Matyas, Gabor, Rubino, Marta, Limongelli, Giuseppe, Brunetti‐Pierri, Nicola

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Good cognitive performances in a child with Prader-Willi syndrome de réir Nugnes, Rosa, Zito, Eugenio, Mozzillo, Enza, Camarca, Maria Erminia, Riccio, Maria Pia, Terrone, Gaetano, Melis, Daniela, Bravaccio, Carmela, Franzese, Adriana

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Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene de réir Cappuccio, Gerarda, Rossi, Alessandro, Fontana, Paolo, Acampora, Emma, Avolio, Valeria, Merla, Giuseppe, Zelante, Leopoldo, Secinaro, Aurelio, Andria, Generoso, Melis, Daniela

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SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan de réir Piccolo, Pasquale, Mithbaokar, Pratibha, Sabatino, Valeria, Tolmie, John, Melis, Daniela, Schiaffino, Maria Cristina, Filocamo, Mirella, Andria, Generoso, Brunetti-Pierri, Nicola

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Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement de réir Rossi, Alessandro, Simeoli, Chiara, Salerno, Mariacarolina, Ferrigno, Rosario, Della Casa, Roberto, Colao, Annamaria, Strisciuglio, Pietro, Parenti, Giancarlo, Pivonello, Rosario, Melis, Daniela

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Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family de réir D’Amico, Alessandra, Melis, Daniela, D’Arco, Felice, Di Paolo, Nilde, Carotenuto, Barbara, D’Anna, Gennaro, Russo, Carmela, Boemio, Pasquale, Brunetti, Arturo

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Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Fun... de réir Melis, Daniela, Carbone, Fortunata, Minopoli, Giorgia, La Rocca, Claudia, Perna, Francesco, De Rosa, Veronica, Galgani, Mario, Andria, Generoso, Parenti, Giancarlo, Matarese, Giuseppe

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Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome de réir Flex, Elisabetta, Ciolfi, Andrea, Caputo, Viviana, Fodale, Valentina, Leoni, Chiara, Melis, Daniela, Bedeschi, Maria Francesca, Mazzanti, Laura, Pizzuti, Antonio, Tartaglia, Marco, Zampino, Giuseppe

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New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants de réir Cappuccio, Gerarda, Vitiello, Francesco, Casertano, Alberto, Fontana, Paolo, Genesio, Rita, Bruzzese, Dario, Ginocchio, Virginia Maria, Mormile, Angela, Nitsch, Lucio, Andria, Generoso, Melis, Daniela

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Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 de réir Santoro, Claudia, Giugliano, Teresa, Kraemer, Markus, Torella, Annalaura, Schwitalla, Jan Claudius, Cirillo, Mario, Melis, Daniela, Berlit, Peter, Nigro, Vincenzo, Perrotta, Silverio, Piluso, Giulio

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Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib de réir Melis, Daniela, Minopoli, Giorgia, Balivo, Francesca, Marcolongo, Paola, Parini, Rossella, Paci, Sabrina, Dionisi-Vici, Carlo, Della Casa, Roberto, Benedetti, Angelo, Andria, Generoso, Parenti, Giancarlo

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Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome de réir D’Amico, Alessandra, Ugga, Lorenzo, Cocozza, Sirio, Giorgio, Sara Maria delle Acque, Cicala, Domenico, Santoro, Claudia, Melis, Daniela, Cinalli, Giuseppe, Brunetti, Arturo, Pappatà, Sabina

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Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal gluc... de réir Melis, Daniela, Rossi, Alessandro, Pivonello, Rosario, Salerno, Mariacarolina, Balivo, Francesca, Spadarella, Simona, Muscogiuri, Giovanna, Casa, Roberto Della, Formisano, Pietro, Andria, Generoso, Colao, Annamaria, Parenti, Giancarlo

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Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance de réir Cubellis, Maria Vittoria, Pignata, Laura, Verma, Ankit, Sparago, Angela, Del Prete, Rosita, Monticelli, Maria, Calzari, Luciano, Antona, Vincenzo, Melis, Daniela, Tenconi, Romano, Russo, Silvia, Cerrato, Flavia, Riccio, Andrea

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